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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-28834120-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28834120&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28834120,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000581407.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-41+8562T>C",
"hgvs_p": null,
"transcript": "NM_001077498.3",
"protein_id": "NP_001070966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": "ENST00000581407.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-41+8562T>C",
"hgvs_p": null,
"transcript": "ENST00000581407.6",
"protein_id": "ENSP00000462419.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": "NM_001077498.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-41+8562T>C",
"hgvs_p": null,
"transcript": "ENST00000582266.6",
"protein_id": "ENSP00000462534.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 28,
"cds_start": -4,
"cds_end": null,
"cds_length": 87,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-206+8562T>C",
"hgvs_p": null,
"transcript": "NM_001288631.2",
"protein_id": "NP_001275560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 564,
"cds_start": -4,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-89+173T>C",
"hgvs_p": null,
"transcript": "NM_001288632.2",
"protein_id": "NP_001275561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-117+8562T>C",
"hgvs_p": null,
"transcript": "NM_001288633.2",
"protein_id": "NP_001275562.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-89+8562T>C",
"hgvs_p": null,
"transcript": "NM_001288635.2",
"protein_id": "NP_001275564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-41+173T>C",
"hgvs_p": null,
"transcript": "NM_018182.4",
"protein_id": "NP_060652.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-41+173T>C",
"hgvs_p": null,
"transcript": "ENST00000577376.6",
"protein_id": "ENSP00000464355.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-41+20830T>C",
"hgvs_p": null,
"transcript": "ENST00000577513.6",
"protein_id": "ENSP00000463642.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-89+8562T>C",
"hgvs_p": null,
"transcript": "ENST00000581229.6",
"protein_id": "ENSP00000464299.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4169,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-89+173T>C",
"hgvs_p": null,
"transcript": "ENST00000583307.6",
"protein_id": "ENSP00000463296.2",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-463+173T>C",
"hgvs_p": null,
"transcript": "NM_001288636.2",
"protein_id": "NP_001275565.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-463+8562T>C",
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"transcript": "NM_001288637.2",
"protein_id": "NP_001275566.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "FAM222B",
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"hgvs_c": "c.-361+173T>C",
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"transcript": "NM_001288638.2",
"protein_id": "NP_001275567.1",
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-313+173T>C",
"hgvs_p": null,
"transcript": "NM_001288639.2",
"protein_id": "NP_001275568.1",
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},
{
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],
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"gene_symbol": "FAM222B",
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"hgvs_c": "c.-313+8562T>C",
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"transcript": "NM_001288640.2",
"protein_id": "NP_001275569.1",
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-191+8562T>C",
"hgvs_p": null,
"transcript": "ENST00000341217.7",
"protein_id": "ENSP00000343115.7",
"transcript_support_level": 5,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "FAM222B",
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"hgvs_c": "c.-41+173T>C",
"hgvs_p": null,
"transcript": "ENST00000577682.6",
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},
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],
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"gene_symbol": "FAM222B",
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"hgvs_c": "c.-89+173T>C",
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},
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"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "FAM222B",
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"hgvs_c": "c.-41+173T>C",
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"transcript": "ENST00000583953.6",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "n.-41+8562T>C",
"hgvs_p": null,
"transcript": "ENST00000579381.1",
"protein_id": "ENSP00000464291.1",
"transcript_support_level": 5,
"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM222B",
"gene_hgnc_id": 25563,
"hgvs_c": "c.-41+20830T>C",
"hgvs_p": null,
"transcript": "XM_047436371.1",
"protein_id": "XP_047292327.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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}